Publication Details

Results for An2014:

Title Towards a molecular characterization of autism spectrum disorders: an exome sequencing and systems approach
AuthorsAn, J.Y., Cristino, A.S., Zhao, Q., Edson, J., Williams, S.M., Ravine, D., Wray, J., Marshall, V.M., Hunt, A., Whitehouse, A.J.O., Claudianos, C.
TechnologyWhole exome sequencing
Variant sourceSupplementary Table 3. The list of de novo variants identified in 48 ASD cases.
CohortsWestern Australian Autism Biological Registry
Subject count29
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count44
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift insertion1
nonsynonymous SNV19
synonymous SNV8

What am I looking at?

Summary: Information from the literature piece (e.g. Author, Publisher, DOI) and the study experimental design (e.g. sample size, source of probands, sequencing technology.) For a full list of sources of variants, be sure to check out the publications page. Documentation and description of our work can be found on the help page.

Breakdown by exonic function: We annotated the variants with an effect prediction using ANNOVAR. The functions are categories of variants, such as frameshift variants (i.e. frameshift_elongation (SO:0001909)), loss/gain of stop codon, SNVs and non-frameshift variants. See the full list of possible annotations for exonic variants in the documentation.